D. Mérino, M. Giam, and P.D. Hughes contributed equally to this paper. Correspondence to Philippe Bouillet: [email protected] O.M. Siggs’ present address is Dept. of Genetics, The Scripps Research Institute, La Jolla, CA 92037. Abbreviations used in this paper: MOMP, mitochondrial outer membrane permeabilization; PKD, polycystic kidney disease; tBid, truncated Bid; WBC, white blood cell; WT,...

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease characterized by formation and progressive enlargement of cysts in kidneys, liver and other organs, leading to end stage renal disease by the fifth decade [1]. Mutations in the PKD1 gene encoding polycystin-1 are responsible for 85% of ADPKD cases, while mutations in the PKD2 gene cause 15% of ADPKD cases with a le...

TRPP2 (transient receptor potential polycystin-2) channels function in a range of cells where they are localized to specific subcellular regions including the endoplasmic reticulum (ER) and primary cilium. In humans, TRPP2/PC-2 mutations severely compromise kidney function and cause autosomal dominant polycystic kidney disease (ADPKD). The Caenorhabditis elegans TRPP2 homolog, PKD-2, is restric...

Vasopressin, also known as arginine vasopressin or antidiuretic hormone, plays a pivotal role in maintaining body homeostasis. Increased vasopressin concentrations, measured by its surrogate copeptin, have been associated with disease severity as well as disease progression in polycystic kidney disease (PKD), and in experimental studies vasopressin has been shown to directly regulate cyst growt...

The mechanism for early hypertension in polycystic kidney disease (PKD) has not been elucidated. One potential pathway that may contribute to the elevation in blood pressure in PKD is the activation of the intrarenal renin-angiotensin-system (RAS). For example, it has been shown that kidney cyst and cystic fluid contains renin, angiotensin II (AngII), and angiotensinogen (Agt). Numerous studies...

Polycystic kidney disease (PKD) proteins are trans-membrane proteins that have crucial roles in many aspects of vertebrate development and physiology, including the development of many organs as well as left-right patterning and taste. They can be divided into structurally-distinct PKD1-like and PKD2-like proteins and usually one PKD1-like protein forms a heteromeric polycystin complex with a P...

GENERAL INFORMATION Key points: (a) Polycystic kidney disease (PKD) is one of the most common genetic disorders; (b) There are two main types of PKD – autosomal dominant (most common) and autosomal recessive; (c) Diagnosis of PKD relies on a combination of clinical history, family history, imaging studies (computed tomography, ultrasound) and clinical findings (hematuria, hypertension, proteinu...

How epithelial cells form a tubule with defined length and lumen diameter remains a fundamental question in cell and developmental biology. Loss of control of tubule lumen size in multiple organs including the kidney, liver and pancreas features polycystic kidney disease (PKD). To gain insights into autosomal dominant polycystic kidney disease, we performed yeast two-hybrid screens using the C-...

Renal tubular epithelial cell proliferation and transepithelial cyst fluid secretion are key features in the progression of polycystic kidney disease (PKD). As the role of the apical renal sodium-glucose cotransporters in these processes is not known, we tested whether phlorizin inhibits cyst growth and delays renal disease progression in a rat model of PKD. Glycosuria was induced by subcutaneo...

A female patient with polycystic kidney disease (PKD) was treated with automated peritoneal dialysis when she reached end-stage renal disease. The patient has been doing very well on automated peritoneal dialysis (APD) for almost 6 years without peritonitis or abdominal hernias. Intra-abdominal pressures are lower in the supine position than in an erect or sitting position. Larger volumes of di...